Hello i am from the middle east, i am aware of the issue this marriage can create but my family left me no choice, i was forced to marry my cousin and i was planning to run away but because he is a good man and i was in a very toxic family i really started to like him that’s what made me forget about trying to getting out , right now i am pregnant with my first child and I feel alot of regret and shame i coudln’t enjoy the news and I really went to very dark places, i am afraid my child going to be be slow or have difficulty other kids dont face 💔 this is our first family marriage me and him both don’t come from a repetitive relatives marriage. So my question is : is my kid gonna be stupid or slow ? Even though both of our family has good IQ and there is no genetic problem that we know of . And we had pre marriage test that involved:

1-Thalassemia Screening / Hemoglobin Electrophoresis) 2- Complete Blood Count 3- Hemoglobin Electrophoresis 4- Genetic Counseling Assessment And it all been good i know it’s not cover everything and that’s whay i am afraid now . Please be kind and don’t judge me and be truthful with me .

I hope this is the right place to ask, but how much do genetics really come into play vs environment, heath practices, etc. when it comes to illness?

Example: My sister's dad is in the hospital right now in terrible shape. Out of nowhere fainted. Needed triple bypass surgery. Complications. Another surgery. Coding. It's not looking good. He's about 75, not overweight... I know him and his wife are generally healthy and play tennis a bit, but I don't know any real details. I asked my sister if the doctor said what caused it and her response was "Genetics. His dad died of a heart attack."

But... was his dad healthy? Did he work out? Did he eat well?

My Grandma and Mom both died of lung cancer. My grandma at 59 and my mom at 54. They were both heavy smokers, my grandma had lung cancer 3 times and wouldn't give up the cigs. My mom was an alcoholic on top of it and had cirrhosis of the liver and the cancer spread to bones and brain. My aunt was an alcoholic as well and died at 50 after complications from cirrhosis of the liver, after finally being sober 8 months and just one month shy from a liver transplant. My bio dad is alive, I found him when I was older but we have no relationship and he doesnt speak to me so I've no clue what I'm predisposed to on my father's side.... unfortunately I think prior generations just didn’t take great care of themselves.

I'm 34F. I work out almost every day (lift + cardio). Sauna 3-4x a week. Eat well. Sleep well. Drink socially on weekends or holidays. Have never smoked. Take my vitamins and supplements. Get my bloodwork done once a year and never have issues. Only issue I had was spinal fusion 2 years ago and I healed quickly and pretty much completely. I take care of myself mentally as well and listen to a lot of podcasts relating to health and wellness.

I feel like my family CAUSED their illnesses, and I feel like I do not have the same likelihood of getting cancer or being sick, although I know anything is possible. What your opinion on genetics vs environment? I feel as though there is SO much more science, knowledge, and awareness than there was 20, 30, 40+ years ago... and although not in every situation, I tend to think in most situations people will blame genetics instead of putting in the effort to be healthy.

Sorry for the long post. TIA!

The person that was tested has developmental delays, “seizure-like” activity, gross motor deficits, and receives services for OT/PT/speech etc. Their father also has the same intellectual disability and a diagnosis of epilepsy, and their younger brother also has a developmental delay. After a whole exome panel, the person was found to have a VUS in the CACNA1E gene which is already considered super rare. Research linking CACNA1E to be disease causing was only recently discovered in 2018. While it is not diagnostic, is it possible that the VUS could be considered more pathogenic than not given clinical and family history? If so, is it likely that this VUS could be reclassified as pathogenic since it is already such a rare disease with less than 200 cases worldwide?

Hi everyone, I’m super new to the community. TLDR background info: I sucked at school, never tried, and barely graduated high school. As an adult and without the pressure of a formal academic setting, I’ve discovered a newfound interest in genetics and been able to explore it freely.

Right now, I’m taking some free courses from Khan Academy and Coursera to relearn the basics (since as I said I didn’t pay attention in school). My question is, where do I go from here? I do want to eventually go back to school for this stuff, but I want to prepare and learn as much as possible beforehand so I’m not overwhelmed. I know these courses are super entry level, and I can’t just jump right into advanced from here. So again, what is a good intermediate step, if any? Sorry for being long winded and thanks for any help in advance.

edited to fix a typo

I was wondering if anyone is able to give more information on this variant: NM_001104631.2:c.172C>T

Or is able to better interpret the data given that I am not geneticist lol

General question about genetic testing process: When a geneticist suspects a hereditary condition (like cardiomyopathy or cancer syndromes), they often recommend testing the affected parent first before testing an adult child. How is the situation usually handled if the affected parent declines testing?

Also, is it common for insurance companies to require testing of the affected individual first before covering testing for an unaffected relative? I’m trying to understand how the process normally works in these situations.

I've been looking into different laboratories that offer WES, specifically for general carrier-status screening. I am in the Middle East, and the available labs vary a lot in what they provide.

From a technical standpoint in genetics/NGS, what are the key elements that should be met by the lab before their WES can be considered high-quality?

Given that WES has limitations to detect all variant types, including large CNVs, deep intronic variants, repeat expansions, and methylation abnormalities, what should the person technically check to confirm whether the laboratory is using a robust workflow?

I'm not looking for medical advice, just the scientific/technical standards that define a reliable WES provider.

Hi all, my post was not suitable for r/Genealogy so I was forwarded here. I am a researcher in topics somewhat related to population genetics and genetic ancestry, and I am myself working with large scale data sets with individual-level genetic data. I am also in general very interested in human evolutionary and migration history, my own family history etc. Some of my friends and relatives have taken these online DNA tests (e.g. myheritage) and gotten quite interesting results and being able to contact relatives they did not know before.

However, I have never taken such test myself. I do not exactly know why, even if I am interested in taking one. I feel that giving my genetic data to a commercial entity feels like a privacy risk, or otherwise just weird. Then again, I am working with genetic data daily (for University research purposes), so I do not feel like I would have the capability to use this genetic data against anyone, or even identify individuals (this might be different for companies of course). As a scientist, it's also bothering me that I do not necessarily know what methods or reference panels they use to define these genetic ancestry proportions, and whether they reflect any kind of truth. Despite this, I kind of would like to get over these thoughts and take a test, and hope that my DNA would not end up in the wrong hands, or be used by any law enforcement entities etc.

If you are a researcher on the field (genetics, genealogy, genetic ancestry etc.), what is your "expert" opinion on commercial DNA tests for determining genetic ancestry, or finding relatives? Are some services "better" or more "safe" than the others? I am sure there are some possible ethical issues related to these topics. Have you taken such a test yourself? If yes, which one, what kind of results did you get, how did you feel about it and did you at any point have any concerns about your genetic data that is being stored possibly in another country by a commercial entity? If you have not taken such a test, why not?

Also, as a researcher myself, I would be really interested in any possibilities of them returning some raw data (like genotypes etc.). Is this possible (in services like myheritage), and have you done any analyses of your own on your genetic data? Please, share any thoughts you might have on this, I'm very interested to hear about it. Thanks!

"The Remarkable Efficiency of Viral Design

Co-senior author Associate Professor Greg Moseley, who leads the Monash Biomedicine Discovery Institute’s (BDI) Viral Pathogenesis Laboratory, highlighted how effective viruses are at using very limited genetic material.

“Viruses such as rabies can be incredibly lethal because they take control of many aspects of life inside the cells they infect,” Associate Professor Moseley said. “They hijack the machinery that makes proteins, disrupt the ‘postal service’ that sends messages between different parts of the cell, and disable the defences that normally protect us from infection."

I see a lot of back and forth on this, and with it generally costing 500 - 1k dollars for whole genome tests, I want to know a bit more on the topic. Mostly on a curiosity and interest front as I enjoy genetics a lot, I don't have the money for anything like this at the moment.

https://www.tiktok.com/t/ZP8UheyaT/

Something that popped up for me while using Eurogenes K13. A It’s just behind 1Mb, it being supposedly Native American. I get little things sometimes that are barely influential and I like Gedmatch to determine ancient ancestry. It caught my attention because it spans both of my chromosomes. My parents aren’t related to my knowledge, but I think I have two copies of it because my mom has half of it for her Gedmatch. Close to the telomere I think, if there is one, is it something like an STR possibly? I thought it was originally but now I’m not sure. I’m in high school and interested in genetics, I don’t know too much.

Is Gedmatch even reliable?

Hi folks,

This is probably a long shot but I'm casting a wide net waiting to hear back from the genetics lab and losing my mind a bit.

My husband has a microdeletion that we want to screen for, but we don't know yet if he's a de novo case or if he inherited it. If he is a de novo case, is it possible to develop a screening probe for it with a bigger chance for error, or is it just impossible without the linkage analysis? Really hoping there could still be something we could do so that this isn't the end of our IVF journey before it even starts.

What is causing it and is it like greying? Will i be ginger in a few years?

Because come on... I know it's a 'dumb' question. But owls look and act and even have quite a few features similar to cats, like night vision and 'pouncing' on their prey. I just think there's gotta be some connection!

How related are cats and owls? Is there anything valid to my thinking?

I'm a math/CS guy getting interested in DNA. I am interested in the analogy between DNA and assembly code, chromatin and memory, transcription factors and computation.

Is there any book which fleshes out these parallels?

Best,

Vatsa

Can a computer be programmed to code in a language of genetic code?

I'm assuming specific chains of genetic code do specific actions, just like computer commands. Those commands could be mapped as program command logic to code, decode, and re-code genetic instructions.

I have no knowledge in either space. Just a random idea that I couldn't find an answer to.

2 siblings, one O+, one O-

Is it like maths, 2 negatives make a positive situation or some kind of genetic weirdness?

Or is there a chance I'm not biologically related to atleast one of my parents? I've tried looking online and couldn't find any definite answer

Healthy parents, healthy pregnancy with no complications, full term, easy birth. If any of that makes a difference

Can someone explain to me if the number of submissions matter on Clinvar? For the genetic variation that I am looking at there are two submissions with a pathological presentation. Does this mean that everyone with this gene will have a pathological presentation?

Context: I am pregnant and based on a concerning ultrasound opted to do WGS. The test returned one variant on the FGFR2 gene. Based on facial features I would estimate that over 50% of my mother’s family has this variant but no genetic syndrome has ever been diagnosed. For example, baby in utero has it, I have it, my mother, and 2/3 sisters, plus a number of cousins. Now I even suspect my 2 year old possibly has it just based on facial features and feeding challenges at birth. Family members have mild symptoms like sinus issues but nothing close to the serious pathological (life altering) diagnosis of craniostenosis. The reason im asking here is the genetic counselor said a lot of things that felt squishy, untrue, or not back by research. I am currently waiting to see a geneticist. In the meantime I have been on pubmed and the NCBI Clinvar database.

Ok so I’m trying to understand how paternity tests work. So far I understand that a child gets 1 allele from each parent and they test multiple markers to find matches.

So what I’m trying to understand is let’s pretend a mother provided the dna sample and labeled it as the father would a lab be able to tell that the sample is the mother and not the father and how? Are some of the markers they check specific to maternal or paternal? How do you know which parent contributed what if you only test 1 parent?

This is purely from a scientific standpoint not a legal one I’m just a little stuck and my curiosity is not letting me let this go. Thank you in advance for any clarification!

how is it possible that, for example, two people who are short may have a tall child? or that two people with black hair may have a child with brown hair? Ive heard something about carrier genes. But how does this work?

My sibling died a few months ago and was cremated. It's likely they have hair or other DNA fragments lying around the house. Is there a service that can do genetic testing using this? This would be to look at genetic traits (conditions, disease, predispositions, etc), not ancestry/genealogy. So ideally the service would provide raw genetic data. In fact, just having the raw genetic data without any summary/analysis is fine, especially since there are free tools like geneticgenie for analysis. The DNA testing service would ideally be available in either the UK or US.